Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38446714dup | CA069608 | RYR1 | c.746dup (p.Ala250SerfsTer?) n.829dup | dbSNP ExAC gnomAD v2 |
19 | g.38446714G>A | CA405680225 | RYR1 | c.746G>A (p.Gly249Glu) n.829G>A | COSMIC |
19 | g.38446714G>C | CA405680232 | RYR1 | c.746G>C (p.Gly249Ala) n.829G>C | |
19 | g.38446714G>T | CA405680230 | RYR1 | c.746G>T (p.Gly249Val) n.829G>T | |
19 | g.38446715A>C | CA507241542 | RYR1 | c.747A>C (p.Gly249=) n.830A>C | gnomAD v4 |
19 | g.38446715A>G | CA507241544 | RYR1 | c.747A>G (p.Gly249=) n.830A>G | ClinVar dbSNP |
19 | g.38446715A>T | CA507241546 | RYR1 | c.747A>T (p.Gly249=) n.830A>T | |
19 | g.38446716G>A | CA405680244 | RYR1 | c.748G>A (p.Ala250Thr) n.831G>A | |
19 | g.38446716G>C | CA405680245 | RYR1 | c.748G>C (p.Ala250Pro) n.831G>C | |
19 | g.38446716G>T | CA405680246 | RYR1 | c.748G>T (p.Ala250Ser) n.831G>T | |
19 | g.38446717C>A | CA405680247 | RYR1 | c.749C>A (p.Ala250Asp) n.832C>A | COSMIC |
19 | g.38446717C= | CA2335027199 | RYR1 | c.749C= (p.Ala250=) n.832C= | |
19 | g.38446717C>G | CA405680248 | RYR1 | c.749C>G (p.Ala250Gly) n.832C>G | |
19 | g.38446717C>T | CA405680249 | RYR1 | c.749C>T (p.Ala250Val) n.832C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446718T>A | CA507241549 | RYR1 | c.750T>A (p.Ala250=) n.833T>A | |
19 | g.38446718T>C | CA507241550 | RYR1 | c.750T>C (p.Ala250=) n.833T>C | dbSNP |
19 | g.38446718T>G | CA507241551 | RYR1 | c.750T>G (p.Ala250=) n.833T>G | |
19 | g.38446718T= | CA2335027200 | RYR1 | c.750T= (p.Ala250=) n.833T= | |
19 | g.38446719G>A | CA405680252 | RYR1 | c.751G>A (p.Val251Met) n.834G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38446719G>C | CA405680254 | RYR1 | c.751G>C (p.Val251Leu) n.834G>C | |
19 | g.38446719G= | CA2335027201 | RYR1 | c.751G= (p.Val251=) n.834G= | |
19 | g.38446719G>T | CA405680259 | RYR1 | c.751G>T (p.Val251Leu) n.834G>T | |
19 | g.38446720T>A | CA405680260 | RYR1 | c.752T>A (p.Val251Glu) n.835T>A | |
19 | g.38446720T>C | CA405680261 | RYR1 | c.752T>C (p.Val251Ala) n.835T>C | |
19 | g.38446720T>G | CA405680262 | RYR1 | c.752T>G (p.Val251Gly) n.835T>G | |
19 | g.38446721G>A | CA507241552 | RYR1 | c.753G>A (p.Val251=) n.836G>A | gnomAD v4 |
19 | g.38446721G>C | CA507241553 | RYR1 | c.753G>C (p.Val251=) n.836G>C | |
19 | g.38446721G>T | CA507241554 | RYR1 | c.753G>T (p.Val251=) n.836G>T | gnomAD v4 |
19 | g.38446722T>A | CA405680267 | RYR1 | c.754T>A (p.Cys252Ser) n.837T>A | |
19 | g.38446722T>C | CA405680263 | RYR1 | c.754T>C (p.Cys252Arg) n.837T>C | dbSNP |
19 | g.38446722T>G | CA405680264 | RYR1 | c.754T>G (p.Cys252Gly) n.837T>G | |
19 | g.38446722T= | CA2335027202 | RYR1 | c.754T= (p.Cys252=) n.837T= | |
19 | g.38446723G>A | CA405680268 | RYR1 | c.755G>A (p.Cys252Tyr) n.838G>A | dbSNP |
19 | g.38446723G>C | CA405680269 | RYR1 | c.755G>C (p.Cys252Ser) n.838G>C | |
19 | g.38446723G= | CA2335027203 | RYR1 | c.755G= (p.Cys252=) n.838G= | |
19 | g.38446723G>T | CA405680270 | RYR1 | c.755G>T (p.Cys252Phe) n.838G>T | |
19 | g.38446724C>A | CA405680273 | RYR1 | c.756C>A (p.Cys252Ter) n.839C>A | |
19 | g.38446724C= | CA2335027204 | RYR1 | c.756C= (p.Cys252=) n.839C= | |
19 | g.38446724C>G | CA405680274 | RYR1 | c.756C>G (p.Cys252Trp) n.839C>G | |
19 | g.38446724C>T | CA308114416 | RYR1 | c.756C>T (p.Cys252=) n.839C>T | dbSNP gnomAD v4 |
19 | g.38446725A= | CA2335027205 | RYR1 | c.757A= (p.Thr253=) n.840A= | |
19 | g.38446725A>C | CA405680276 | RYR1 | c.757A>C (p.Thr253Pro) n.840A>C | dbSNP |
19 | g.38446725A>G | CA405680279 | RYR1 | c.757A>G (p.Thr253Ala) n.840A>G | |
19 | g.38446725A>T | CA405680281 | RYR1 | c.757A>T (p.Thr253Ser) n.840A>T | |
19 | g.38446726C>A | CA405680285 | RYR1 | c.758C>A (p.Thr253Asn) n.841C>A | |
19 | g.38446726C= | CA2335027206 | RYR1 | c.758C= (p.Thr253=) n.841C= | |
19 | g.38446726C>G | CA405680286 | RYR1 | c.758C>G (p.Thr253Ser) n.841C>G | |
19 | g.38446726C>T | CA069788 | RYR1 | c.758C>T (p.Thr253Ile) n.841C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38446727T>A | CA507241557 | RYR1 | c.759T>A (p.Thr253=) n.842T>A | |
19 | g.38446727T>C | CA507241558 | RYR1 | c.759T>C (p.Thr253=) n.842T>C | dbSNP |